Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Cervix/PUM1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/PUM1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/PUM1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/PUM1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/PUM1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/PUM1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/PUM1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/PUM1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Prostate/PUM1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/PUM1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/PUM1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1900246 | Skin | SCCIS | positive regulation of RIG-I signaling pathway | 4/919 | 10/18723 | 9.55e-04 | 1.20e-02 | 4 |
GO:003105015 | Skin | SCCIS | dsRNA processing | 9/919 | 54/18723 | 1.15e-03 | 1.38e-02 | 9 |
GO:007091815 | Skin | SCCIS | production of small RNA involved in gene silencing by RNA | 9/919 | 54/18723 | 1.15e-03 | 1.38e-02 | 9 |
GO:0009615110 | Skin | SCCIS | response to virus | 32/919 | 367/18723 | 1.23e-03 | 1.45e-02 | 32 |
GO:00395356 | Skin | SCCIS | regulation of RIG-I signaling pathway | 5/919 | 20/18723 | 2.36e-03 | 2.35e-02 | 5 |
GO:000275314 | Skin | SCCIS | cytoplasmic pattern recognition receptor signaling pathway | 9/919 | 60/18723 | 2.47e-03 | 2.40e-02 | 9 |
GO:009858614 | Skin | SCCIS | cellular response to virus | 11/919 | 84/18723 | 2.63e-03 | 2.48e-02 | 11 |
GO:00028333 | Skin | SCCIS | positive regulation of response to biotic stimulus | 17/919 | 168/18723 | 3.77e-03 | 3.27e-02 | 17 |
GO:0043488110 | Skin | SCCIS | regulation of mRNA stability | 16/919 | 158/18723 | 4.83e-03 | 3.98e-02 | 16 |
GO:006220814 | Skin | SCCIS | positive regulation of pattern recognition receptor signaling pathway | 7/919 | 44/18723 | 5.25e-03 | 4.20e-02 | 7 |
GO:006220714 | Skin | SCCIS | regulation of pattern recognition receptor signaling pathway | 12/919 | 105/18723 | 5.35e-03 | 4.25e-02 | 12 |
GO:00395285 | Skin | SCCIS | cytoplasmic pattern recognition receptor signaling pathway in response to virus | 6/919 | 34/18723 | 5.69e-03 | 4.44e-02 | 6 |
GO:190331126 | Skin | cSCC | regulation of mRNA metabolic process | 162/4864 | 288/18723 | 5.90e-28 | 2.46e-25 | 162 |
GO:000641729 | Skin | cSCC | regulation of translation | 226/4864 | 468/18723 | 8.78e-26 | 2.62e-23 | 226 |
GO:000705912 | Skin | cSCC | chromosome segregation | 161/4864 | 346/18723 | 8.34e-17 | 8.57e-15 | 161 |
GO:0006401111 | Skin | cSCC | RNA catabolic process | 133/4864 | 278/18723 | 2.71e-15 | 2.23e-13 | 133 |
GO:000989628 | Skin | cSCC | positive regulation of catabolic process | 206/4864 | 492/18723 | 6.06e-15 | 4.64e-13 | 206 |
GO:0006402111 | Skin | cSCC | mRNA catabolic process | 115/4864 | 232/18723 | 9.01e-15 | 6.57e-13 | 115 |
GO:003133128 | Skin | cSCC | positive regulation of cellular catabolic process | 182/4864 | 427/18723 | 3.29e-14 | 2.22e-12 | 182 |
GO:0034655111 | Skin | cSCC | nucleobase-containing compound catabolic process | 172/4864 | 407/18723 | 4.11e-13 | 2.43e-11 | 172 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PUM1 | SNV | Missense_Mutation | novel | c.2154N>C | p.Lys718Asn | p.K718N | Q14671 | protein_coding | deleterious(0.02) | benign(0.168) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
PUM1 | SNV | Missense_Mutation | novel | c.577N>G | p.Arg193Gly | p.R193G | Q14671 | protein_coding | deleterious_low_confidence(0) | benign(0.445) | TCGA-AR-A2LJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
PUM1 | SNV | Missense_Mutation | rs560648926 | c.1145N>G | p.Asn382Ser | p.N382S | Q14671 | protein_coding | tolerated_low_confidence(0.27) | benign(0.068) | TCGA-B6-A0I1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PUM1 | SNV | Missense_Mutation | | c.2282N>T | p.Pro761Leu | p.P761L | Q14671 | protein_coding | deleterious(0) | benign(0.201) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
PUM1 | SNV | Missense_Mutation | novel | c.3214N>A | p.Leu1072Ile | p.L1072I | Q14671 | protein_coding | deleterious(0.01) | benign(0.208) | TCGA-E9-A54X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PUM1 | SNV | Missense_Mutation | novel | c.271N>A | p.Glu91Lys | p.E91K | Q14671 | protein_coding | deleterious_low_confidence(0.01) | benign(0.074) | TCGA-EW-A3E8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
PUM1 | SNV | Missense_Mutation | novel | c.2386C>T | p.Arg796Cys | p.R796C | Q14671 | protein_coding | deleterious(0) | probably_damaging(0.91) | TCGA-LL-A8F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
PUM1 | insertion | Nonsense_Mutation | novel | c.2299_2300insCTAGATGTAGAGTCACCATATAATGTATCATGCAAACC | p.Gly767AlafsTer8 | p.G767Afs*8 | Q14671 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PUM1 | insertion | In_Frame_Ins | novel | c.2594_2595insAACAGGAGC | p.Phe865delinsLeuThrGlyAla | p.F865delinsLTGA | Q14671 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PUM1 | insertion | Frame_Shift_Ins | novel | c.2592_2593insG | p.Phe865ValfsTer13 | p.F865Vfs*13 | Q14671 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |